Canonical Allele Identifier: CA360485074
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3049410
ClinVar RCV Id: RCV003959250
dbSNP Id: rs1195026964
gnomAD v2: 5-95764921-T-C
gnomAD v3: 5-96429217-T-C
gnomAD v4: 5-96429217-T-C
MyVariant Identifiers: chr5:g.95764921T>C (hg19) chr5:g.96429217T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429217T>C , CM000667.2:g.96429217T>C GRCh38
NC_000005.9:g.95764921T>C , CM000667.1:g.95764921T>C GRCh37
NC_000005.8:g.95790677T>C NCBI36
NG_021161.1:g.9065A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.281A>G MANE Select ENSP00000308024.2:p.Asp94Gly
ENST00000311106.7:c.281A>G ENSP00000308024.2:p.Asp94Gly
ENST00000508626.5:c.140A>G ENSP00000421600.1:p.Asp47Gly
ENST00000509190.1:c.281A>G ENSP00000427294.1:p.Asp94Gly
NM_000439.4:c.281A>G NP_000430.3:p.Asp94Gly
NM_001177875.1:c.140A>G NP_001171346.1:p.Asp47Gly
NR_130776.1:n.354+49565T>C
NM_000439.5:c.281A>G MANE Select NP_000430.3:p.Asp94Gly
NM_001177875.2:c.140A>G NP_001171346.1:p.Asp47Gly
Search 100 bp 5'
Search 100 bp 3'